Pitpna phosphatidylinositol transfer protein, alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pitpnaprovided by MGI
Official Full Name: phosphatidylinositol transfer protein, alphaprovided by MGI
Primary source: MGI:MGI:99887
See related: Ensembl:ENSMUSG00000017781 AllianceGenome:MGI:99887
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: vb; Pitpn; vibrator
Summary: This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate by phosphoinositide-3-kinase. [provided by RefSeq, Sep 2015]
Expression: Ubiquitous expression in cerebellum adult (RPKM 61.1), cortex adult (RPKM 50.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B5; 11 45.92 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (75478889..75519630)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (75588079..75628804)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

these data show that ablating PITPs in MKs indirectly dysregulates hematopoiesis in the BM by disrupting alpha-granule physiology and secretion of TGF-beta1.
Title: Phosphatidylinositol transfer proteins regulate megakaryocyte TGF-β1 secretion and hematopoiesis in mice.
platelet PITPalpha-mediated phosphoinositide signaling is inconsequential for in vivo hemostasis.
Title: Phosphatidylinositol transfer protein-α in platelets is inconsequential for thrombosis yet is utilized for tumor metastasis.
These results indicate a mechanism of suppression that bypasses a quantitative requirement for PITPalpha function.
Title: Modifier genes for mouse phosphatidylinositol transfer protein α (vibrator) that bypass juvenile lethality.
phosphatidylinositol binding is an essential functional property of PITPalpha in vivo, and suggest a causal linkage between defects in lipid transport and glucose homeostasis and cerebellar inflammatory disease
Title: The pathologies associated with functional titration of phosphatidylinositol transfer protein alpha activity in mice.
Involved in phosphoionoitide homeostasis and signal transsduction (review)
Title: Phosphatidylinositol transfer protein function in the mouse.
Data suggest that phosphatidylinositol transfer protein (PITP) beta is an essential housekeeping PITP in murine cells, whereas PITP alpha plays a far more specialized function in mammals.
Title: Genetic ablation of phosphatidylinositol transfer protein function in murine embryonic stem cells.
These results identify a crucial role for PlTPalpha in netrin-1-induced neurite outgrowth, revealing a signalling mechanism for DCC/neogenin and PlTPalpha regulation.
Title: Phosphatidylinositol transfer protein-alpha in netrin-1-induced PLC signalling and neurite outgrowth.
The PITPalpha function in murine cells has no deleterious consequences for growth and bulk phospholipid metabolism.
Title: Biological functions of phosphatidylinositol transfer proteins.
PITP alpha has a role with glucose homeostasis and in mammalian endoplasmic reticulum functions that interface with transport of specific luminal lipid cargoes
Title: Mice lacking phosphatidylinositol transfer protein-alpha exhibit spinocerebellar degeneration, intestinal and hepatic steatosis, and hypoglycemia.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Gene trapped (1) 1 citation
Spontaneous (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PITPN (e-PCR)
- UniSTS:266694

24.MMHAP18FRH9.seq (e-PCR)
- UniSTS:123636

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables fatty-acyl-CoA binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables phosphatidylcholine binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylcholine transfer activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine transporter activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol transfer activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol transfer activity	ISO Inferred from Sequence Orthology more info
enables phospholipid binding	ISO Inferred from Sequence Orthology more info	PubMed
enables stearic acid binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermembrane lipid transfer	IEA Inferred from Electronic Annotation more info
involved_in phospholipid transport	IEA Inferred from Electronic Annotation more info
involved_in phospholipid transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in myelin sheath	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phosphatidylinositol transfer protein alpha isoform

Names: PI-TP-alpha; Pitp alpha; ptdIns transfer protein alpha; ptdInsTP alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008850.2 → NP_032876.1 phosphatidylinositol transfer protein alpha isoform

See identical proteins and their annotated locations for NP_032876.1

Status: REVIEWED

Source sequence(s)

AK153569, AK168720, BQ176339, BY316588

Consensus CDS

CCDS25052.1

UniProtKB/Swiss-Prot

P53810

UniProtKB/TrEMBL

Q3UE53, Q5ND42

Related

ENSMUSP00000115723.2, ENSMUST00000143219.8

Conserved Domains (1) summary

cd08888
Location:3 → 260

SRPBCC_PITPNA-B_like; Lipid-binding SRPBCC domain of mammalian PITPNA, -B, and related proteins (Class I PITPs)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

75478889..75519630

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156423.1 → XP_036012316.1 phosphatidylinositol transfer protein alpha isoform isoform X1

Conserved Domains (1) summary

cl14643
Location:1 → 186

SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily